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Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center